Adrenal Hypoplasia, Congenital

What is Adrenal Hypoplasia, Congenital?

Adrenal Hypoplasia, Congenital is a rare disease. It is also known as Addison Disease, X-linked; Ahx Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism; Ahch Ahc With Hhg Ahc With Isolated Gonadotropin Deficiency Cytomegalic Adrenocortical Hypoplasia.

The association between Duchenne muscular dystrophy, congenital adrenal hypoplasia, mental retardation and glycerol kinase deficiency is well recognised. Three sibs were described by Renier et al., (1983). Affected individuals presumably have extended deletions around the Duchenne locus. Petrykowski et al., (1982) described two affected brothers with a similar combination associated with megalocornea, chronic constipation and terminal bladder ectasia. It is not certain whether detailed banding studies of chromosomes were carried out. There could possibly be genes for the additional features seen in these brothers around the Duchenne locus. Fries et al., (1993) reported two mentally retarded females who were heterozygous for microdeletions at Xp21, associated with DMD, adrenal hypoplasia, glycerol kinase deficiency and mental retardation in other male family members.
Pillers et al., (1993) studied five patients and found various eye abnormalities including ocular hypopigmentation, strabismus, myopia, astigmatism and symptomatic night blindness. The authors suggested a deletion of a gene at Xp21 and named the phenotype Oregon eye disease. Scheuerle et al., (1995) suggests that there is a characteristic facial appearance in this condition including an hourglass appearance to the middle of the face, hypertelorism, rounded palpebral fissures and a downturned mouth. Unfortunately the photographs of the case they presented did not seem to show these features.
Wheway et al., (2003) reported a patient with the condition who had a complex deletion-inversion-deletion resulting in fusion of the IL1RAPL1 and dystrophin genes.

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* This information is courtesy of the L M D.

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What gene changes cause Adrenal Hypoplasia, Congenital?

The syndrome is inherited in the following inheritance pattern/s:

X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.


Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 300200 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
ABCD1 - Xq28
NR0B1 - Xp21.2
MC2R - 18p11.21
STAR - 8p11.23
AAAS - 12q13.13
MCM4 - 8q11.21
CYP17A1 - 10q24.32
POMC - 2p23.3
MRAP - 21q22.11
NNT - 5p12
NR5A1 - 9q33.3
SAMD9 - 7q21.2
TBX19 - 1q24.2
CYP21A2 - 6p21.33
SGPL1 - 10q22.1
AIRE - 21q22.3
CYP11A1 - 15q24.1
HSD3B2 - 1p12
CDKN1C - 11p15.4
TXNRD2 - 22q11.21

What are the main symptoms of Adrenal Hypoplasia, Congenital?

The typical symptoms of the syndrome are:
Hypocortisolemia, Decreased circulating aldosterone level, Hypogonadotropic hypogonadism, Hyponatremia, Hyperpigmentation of the skin, Dehydration, Delayed puberty, Failure to thrive, Cryptorchidism, Low gonadotropins (secondary hypogonadism), Muscular dystrophy, Adrenal hypoplasia, Absence of pubertal development, Renal salt wasting, X-linked recessive inheritance

How does someone get tested for Adrenal Hypoplasia, Congenital?

The initial testing for Adrenal Hypoplasia, Congenital can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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